视网膜母细胞瘤是一种罕见的眼内肿瘤，平均发生率为每生18000例。该病主要影响儿童早期，如果在早期阶段进行诊断可以治愈，但如果没有及时治疗可能会变得恶性并威胁生命。该病没有种族、性别或环境因素的倾向，因此在儿科肿瘤学领域通常被认为是临床成功案例。在高度发达的国家，存活率超过95%，这得益于诊断和治疗技术的进步。这包括发展已有的化疗技术，并采用新策略，如眼球摘除、热疗、冷冻疗法等。早期诊断、对病因病理学和遗传学的研究是提高存活率的当务之急。根据Knudson假说，即两次对视网膜母细胞瘤易感基因的打击往往被认为是疾病发展的始动事件。对该病的分子基础的研究还揭示了其下游事件，从而发现了生物标志物和相关的靶向治疗。此外，分子生物学技术的改进，促进了早期诊断、遗传咨询和预防该病的有效方法的发展。在本综述中，我们讨论了视网膜母细胞瘤的遗传和分子特征，特别强调导致细胞增殖、DNA修复和细胞可塑性紊乱的关键信号通路突变。此外，我们描述了该病的分类、临床和流行病学相关性，并重点介绍了传统和创新的治疗方法。视频摘要。© 2023. BioMed Central Ltd., part of Springer Nature.

With an average incidence of 1 in every 18,000 live births, retinoblastoma is a rare type of intraocular tumour found to affect patients during their early childhood. It is curable if diagnosed at earlier stages but can become life-threateningly malignant if not treated timely. With no racial or gender predisposition, or even environmental factors known to have been involved in the incidence of the disease, retinoblastoma is often considered a clinical success story in pediatric oncology. The survival rate in highly developed countries is higher than 95% and they have achieved this because of the advancement in the development of diagnostics and treatment techniques. This includes developing the already existing techniques like chemotherapy and embarking on new strategies like enucleation, thermotherapy, cryotherapy, etc. Early diagnosis, studies on the etiopathogenesis and genetics of the disease are the need of the hour for improving the survival rates. According to the Knudson hypothesis, also known as the two hit hypothesis, two hits on the retinoblastoma susceptibility (RB) gene is often considered as the initiating event in the development of the disease. Studies on the molecular basis of the disease have also led to deciphering the downstream events and thus in the discovery of biomarkers and related targeted therapies. Furthermore, improvements in molecular biology techniques enhanced the development of efficient methods for early diagnosis, genetic counseling, and prevention of the disease. In this review, we discuss the genetic and molecular features of retinoblastoma with a special emphasis on the mutation leading to the dysregulation of key signaling pathways involved in cell proliferation, DNA repair, and cellular plasticity. Also, we describe the classification, clinical and epidemiological relevance of the disease, with an emphasis on both the traditional and innovative treatments to tackle retinoblastoma. Video Abstract.© 2023. BioMed Central Ltd., part of Springer Nature.